Varaico: Literature-Extracted Genetic Variants

Gene:KEAP1
Variant:p.S293_D294Fs
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KEAP1

NM_203500.2:p.S293_D294Fs

Associated Papers

KEAP1 mutations activate the NRF2 pathway to drive cell growth and migration, and attenuate drug response in thyroid cancer.

Bambach NE et al.

Frontiers in Oncology, 2025

41573641 (PubMed )
Supplement: Table2.xlsx › Sheet1

Mice Hypomorphic for Keap1, a Negative Regulator of the Nrf2 Antioxidant Response, Show Age-Dependent Diffuse Goiter with Elevated Thyrotropin Levels.

Ziros PG et al.

Thyroid : Official Journal of the American Thyroid Association, 2021

Keap1/Nrf2 Signaling: A New Player in Thyroid Pathophysiology and Thyroid Cancer.

Renaud CO et al.

Frontiers in Endocrinology, 2019

Identification of a KEAP1 germline mutation in a family with multinodular goitre.

Teshiba R et al.

Plos One, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."